Hydin - SNV Details



 Human Rare Diseases 
Primary ciliary dyskinesia

 Gene Information 
Gene Name Hydin
Old Gene Names for Hydin Ac069308.21gm4 , 1700034m11rik , 4930545d19rik
Gene Description HYDIN, axonemal central pair apparatus protein [Source:MGI Symbol;Acc:MGI:2389007]
MGI phenotype Mice homozygous for a mutation in this gene develop hydrocephaly after birth. Symptoms develop after 3-5 days. Affected animals usually die before 2 months of age.
Uniprot Name
CCDS Name
Gene GO
ventricular system development; epithelial cell development; cilium assembly; cilium movement; trachea development; cellular_component; multicellular organismal development; molecular_function
Homolog in other species HYDIN
Omim http://omim.org/entry/610812
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW
MEDIAN
MEDIAN
MEDIAN
MEDIAN
LOW/MEDIAN
MEDIAN(HIGHER IN TESTIS)
MEDIAN(HIGHER IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000059854
Chromosome 8
Coordinate 110,514,895     (Assembly: GRCm38)    
Ref Base A
Codon Change Atc/Ctc
Var Base C
Zygosity Heterozygous
Read Depth 81
Allele Frequency
A:R0.42
C:V0.58
Amino Acid Position 2106
Amino Acid Change I->L (Isoleucine -> Leucine)
Sample ID IGL01983
Median Base Quality 35
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 0.6
Polyphen Prediction Possibly damaging
Sift Score 0.14
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000046204:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
P-loop containing nucleoside triphosphate hydrolase P-loop_NTPase IPR027417 ENSMUSP00000046204 Superfamily 2071
2140 Description available Search pathways
P-loop containing nucleoside triphosphate hydrolase P-loop_NTPase IPR027417 ENSMUSP00000046204 Superfamily 2068
2397 Description available Search pathways

 Availability Details 
Availability Cryopreserved